Tay-Sachs disease is a rare hereditary disorder that occurs when the body lacks an enzyme that can break down fatty ...

(RNS) — Some 25 years ago, a friend of mine and his wife whose little boy had been diagnosed with Tay-Sachs disease visited our home. A relatively rare genetic disorder that is less so among ...

In one particular variant of this disease known as mucopolysaccharidosis I (MPS I), a deficiency of the enzyme alpha-L-iduronidase causes a build up of GAGs in tissues and organs, which in turn ...

Carrying Tay-Sachs disease may protect against tuberculosis (TB). In Ashkenazim populations, up to 11 percent of the people are Tay-Sachs carriers. During World War II, TB ran rampant in Eastern ...

In this webinar, Kevin J. Tracey and Lawrence Steinman will discuss how researchers study the immunology of the brain and its roles in health and disease. In this webinar, Kevin J. Tracey and Lawrence ...

Rare Disease Day provided a forum for university and state leaders to lay out the future plans and share the work already underway.

Ensuring every newborn has access to life-saving screening and treatment is both a moral and economic imperative.' ...

Fabry disease and GM2 gangliosidosis (also known as Tay-Sachs disease), but the company's earlier assessment of venglustat as a "pipeline in a pill" is starting to look shaky. The phase 2/3 STAGED ...

Carrier testing Cystic fibrosis, Tay-Sachs disease This type of test is often used by individuals with a family history of a specific disorder who wish to determine their risk for having a child ...

Diseases like Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, and Pompe disease result from waste buildup in cells, leading to serious health issues. Dysfunctions of the lysosomal ...